Entry Search - 300143 300200 300206 300377 300473 300474 307030 310200

Search: '300143 300200 300206 300377 300473 300474 307030 310200 (Search in: MIM number)'

Results: 8 entries.

# 300143. INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21; XLID21
Cytogenetic location: Xp21.3-p21.2
Matching terms: 300143
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
Xp21.3-p21.2	Intellectual developmental disorder, X-linked 21	300143	XLR	3	IL1RAPL1	300206

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Intellectual developmental disorder, nonsyndromic, X-linked - PS309530 - 55 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
Xp22.3	Intellectual developmental disorder, X-linked 2	XL	2	300428	XLID2	300428
Xp22.2	Intellectual developmental disorder, X-linked 73	XLR	2	300355	XLID73	300355
Xp22.2	Intellectual developmental disorder, X-linked 104	XL	3	300983	FRMPD4	300838
Xp22.12	Intellectual developmental disorder, X-linked 19	XLD	3	300844	RPS6KA3	300075
Xp22.11	Intellectual developmental disorder, X-linked 103	XLR	3	300982	KLHL15	300980
Xp21.3	Intellectual developmental disorder, X-linked 29	XLR	3	300419	ARX	300382
Xp21.3-p21.2	Intellectual developmental disorder, X-linked 21	XLR	3	300143	IL1RAPL1	300206
Xp11-q21	Intellectual developmental disorder, X-linked 20	XL	2	300047	XLID20	300047
Xp11.4	Intellectual developmental disorder, X-linked 58	XLR	3	300210	TSPAN7	300096
Xp11.4	Intellectual developmental disorder, X-linked 99, syndromic, female-restricted	XLD	3	300968	USP9X	300072
Xp11.4	Intellectual developmental disorder, X-linked 99	XLR	3	300919	USP9X	300072
Xp11.3-q13.3	Intellectual developmental disorder, X-linked 14	XL	2	300062	XLID14	300062
Xp11.3-p11.21	Intellectual developmental disorder, X-linked 45	XL	2	300498	XLID45	300498
Xp11.3-q22.3	Intellectual developmental disorder, X-linked 84	XLR	2	300505	XLID84	300505
Xp11.3	Intellectual developmental disorder, X-linked 89	XLD	2	300848	XLID89	300848
Xp11.3	Intellectual developmental disorder, X-linked 92	XLR	2	300851	XLID92	300851
Xp11.3	Intellectual developmental disorder, X-linked 108	XLR	3	301024	SLC9A7	300368
Xp11.3-p11.23	Intellectual developmental disorder, X-linked 50	XL	3	300115	SYN1	313440
Xp11.2-q12	Intellectual developmental disorder, X-linked 81	XLR	2	300433	XLID81	300433
Xp11.23	Intellectual developmental disorder, X-linked 9	XLR	3	309549	FTSJ1	300499
Xp11.23	Intellectual developmental disorder, X-linked 96	XLR	3	300802	SYP	313475
Xp11.23	Intellectual developmental disorder, X-linked 105	XLR	3	300984	USP27X	300975
Xp11.22	Xp11.22 microduplication syndrome		4	300705	DUPXp11.22	300705
Xp11.22	Intellectual developmental disorder, X-linked 1	XLD	3	309530	IQSEC2	300522
Xq12-q21.3	Intellectual developmental disorder, X-linked 77	XLR	2	300454	XLID77	300454
Xq13.1	Intellectual developmental disorder, X-linked 100	XLR	3	300923	KIF4A	300521
Xq13.1	Intellectual developmental disorder, X-linked 90	XLR	3	300850	DLG3	300189
Xq13.1	Intellectual developmental disorder, X-linked 112	XLR	3	301111	ZMYM3	300061
Xq13.1	Intellectual developmental disorder, X-linked 106	XLR	3	300997	OGT	300255
Xq13.2	Tonne-Kalscheuer syndrome	XL	3	300978	RLIM	300379
Xq13.3	Intellectual developmental disorder, X-linked 91	XLD	4	300577	XLID91	300577
Xq13.3	Intellectual developmental disorder, X-linked 98	XLD	3	300912	NEXMIF	300524
Xq21.1	Intellectual developmental disorder, X-linked 93	XLR	3	300659	BRWD3	300553
Xq21.1	Intellectual developmental disorder, X-linked 97	XL	3	300803	ZNF711	314990
Xq22.1	?Intellectual developmental disorder, X-linked 113	XLR	3	301116	CSTF2	300907
Xq22.2-q26	Intellectual developmental disorder, X-linked 53	XLR	2	300324	XLID53	300324
Xq22.3	?Intellectual developmental disorder, X-linked 101	XLR	3	300928	MID2	300204
Xq23-q24	Intellectual developmental disorder, X-linked 23	XL	2	300046	XLID23	300046
Xq23	Intellectual developmental disorder, X-linked 63	XLD	3	300387	ACSL4	300157
Xq23	Intellectual developmental disorder, X-linked 30	XLR	3	300558	PAK3	300142
Xq24-q25	Intellectual developmental disorder, X-linked 82	XLR	2	300518	XLID82	300518
Xq24	Intellectual developmental disorder, X-linked 88	XL	2	300852	XLID88	300852
Xq24	?Intellectual developmental disorder, X-linked 107	XL	3	301013	STEEP1	301012
Xq25-q26	Intellectual developmental disorder, X-linked 46	XLR	2	300436	XLID46	300436
Xq25	Intellectual developmental disorder, X-linked syndromic, Wu type	XLR	3	300699	GRIA3	305915
Xq25	Intellectual developmental disorder, X-linked syndromic, Kumar type	XL	3	300957	THOC2	300395
Xq26	Intellectual developmental disorder, X-linked 42		2	300372	XLID42	300372
Xq26.3-q27.1	Intellectual developmental disorder, X-linked 110	XLR	3	301095	FGF13	300070
Xq27.3	Intellectual developmental disorder, X-linked 111	XL	3	301107	SLITRK2	300561
Xq28	Intellectual developmental disorder, X-linked 109	XLR	3	309548	AFF2	300806
Xq28	Intellectual developmental disorder, X-linked 114	XL	3	301134	SRPK3	301002
Xq28	Methylmalonic aciduria and homocysteinemia, cblX type	XLR	3	309541	HCFC1	300019
Xq28	Intellectual developmental disorder, X-linked 41	XLD	3	300849	GDI1	300104
Xq28	Intellectual developmental disorder, X-linked 72	XLR	3	300271	RAB39B	300774
Chr.X	Intellectual developmental disorder, X-linked 95	XLD	2	300716	XLID95	300716

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype

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ICD+
ORPHA: 777 DO: 0112022

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# 300200. ADRENAL HYPOPLASIA, CONGENITAL; AHC
Cytogenetic location: Xp21.2
Matching terms: 300200
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
Xp21.2	Adrenal hypoplasia, congenital	300200	XLR	3	NR0B1	300473

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA	Cell Lines Coriell

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ICD+
SNOMEDCT: 237764004 ORPHA: 95702 DO: 0080156

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* 300206. INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1; IL1RAPL1
IL1RAPL1/DMD FUSION GENE, INCLUDED
Cytogenetic location: Xp21.3-p21.2, Genomic coordinates (GRCh38): X:28,587,446-29,956,718
Matching terms: 300206
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
Xp21.3-p21.2	Intellectual developmental disorder, X-linked 21	300143	XLR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs LOVD 3.0 shared installati… IL1RAPL1 database at LOVD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways Reactome

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* 300377. DYSTROPHIN; DMD
APO-DYSTROPHIN 1, INCLUDED
Cytogenetic location: Xp21.2-p21.1, Genomic coordinates (GRCh38): X:31,119,222-33,339,388
Matching terms: 300377
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
Xp21.2-p21.1	Becker muscular dystrophy	300376	XLR	3
	Cardiomyopathy, dilated, 3B	302045	XL	3
	Duchenne muscular dystrophy	310200	XLR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs Leiden Muscular Dystrophy … Duchenne Muscular Dystroph… The DMD mutations database… NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 387732009, 702424003, 76670001

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* 300473. NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1
Cytogenetic location: Xp21.2, Genomic coordinates (GRCh38): X:30,304,206-30,309,390
Matching terms: 300473
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
Xp21.2	46XY sex reversal 2, dosage-sensitive	300018	XL	3
Xp21.2	Adrenal hypoplasia, congenital	300200	XLR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage GTR	Variation ClinVar gnomAD GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 93235007

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* 300474. GLYCEROL KINASE; GK
Cytogenetic location: Xp21.2, Genomic coordinates (GRCh38): X:30,653,423-30,731,462
Matching terms: 300474
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
Xp21.2	Glycerol kinase deficiency	307030	XLR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity GTR	Variation ClinVar DECIPHER gnomAD GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 124322002

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# 307030. GLYCEROL KINASE DEFICIENCY; GKD
Cytogenetic location: Xp21.2
Matching terms: 307030
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
Xp21.2	Glycerol kinase deficiency	307030	XLR	3	GK	300474

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Links
Testing GTR EuroGentest Glycerol kinase deficiency… Glycerol kinase deficiency… Isolated glycerol kinase d…	Clinical Resources Clinical Trials EuroGentest Glycerol kinase deficiency… Glycerol kinase deficiency… Isolated glycerol kinase d… Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet Glycerol kinase deficiency… Glycerol kinase deficiency… Isolated glycerol kinase d…	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 124322002 ORPHA: 284411, 284414, 408 DO: 0060363

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# 310200. MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
Cytogenetic location: Xp21.2-p21.1
Matching terms: 310200
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
Xp21.2-p21.1	Duchenne muscular dystrophy	310200	XLR	3	DMD	300377

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Dystrophinopathies NR0B1-Related Adrenal Hypo… Genetic Alliance MedlinePlus Genetics GTR Newborn Screening OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 387732009, 76670001 ORPHA: 98896 DO: 11723

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Search: 300143 300200 300206 300377 300473 300474 307030 310200 (Search in: MIM number)

Results: 8 entries.

# 300143. INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21; XLID21
Cytogenetic location: Xp21.3-p21.2
Matching terms: 300143

# 300200. ADRENAL HYPOPLASIA, CONGENITAL; AHC
Cytogenetic location: Xp21.2
Matching terms: 300200

* 300377. DYSTROPHIN; DMD
APO-DYSTROPHIN 1, INCLUDED
Cytogenetic location: Xp21.2-p21.1, Genomic coordinates (GRCh38): X:31,119,222-33,339,388
Matching terms: 300377

* 300473. NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1
Cytogenetic location: Xp21.2, Genomic coordinates (GRCh38): X:30,304,206-30,309,390
Matching terms: 300473

* 300474. GLYCEROL KINASE; GK
Cytogenetic location: Xp21.2, Genomic coordinates (GRCh38): X:30,653,423-30,731,462
Matching terms: 300474

# 307030. GLYCEROL KINASE DEFICIENCY; GKD
Cytogenetic location: Xp21.2
Matching terms: 307030

# 310200. MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
Cytogenetic location: Xp21.2-p21.1
Matching terms: 310200

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